Early-onset parkinsonism-intellectual disability syndrome
Early-onset parkinsonism-intellectual disability syndrome
Definition
A basal ganglia disorder characterized by Parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.
Also known as early-onset parkinsonism-intellectual disability syndrome, Laxova-Opitz syndrome, Waisman syndrome, Waisman syndrome, X-linked recessive — per MONDO